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Percentage of normal enzyme activity before and after phenylbutyrate in skin fibroblastsa
| Fibroblasts |
||
|---|---|---|
| − | + | |
| Normal control | 100% | 176.08% |
| Patient 1 | N.A. | N.A. |
| Patient 2 | N.A. | N.A. |
| Patient 3 | 0.59% | 0.52% |
| Patient 4 | N.A. | N.A. |
| Patient 5 | 4.47% | 7.62% |
aEnzyme activity measured on fibroblasts using the radioactive method previously described (34). N.A., not available.
